Canonical Allele Identifier: CA227810

Gene: BEST1

Linked Data

• ClinVar Variation Id: 99746
• ClinVar RCV Id: RCV000086163
• dbSNP Id: rs281865246
• MyVariant Identifiers: chr11:g.61724932C>G (hg19) ; chr11:g.61957460C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61957460C>G , CM000673.2:g.61957460C>G	GRCh38
NC_000011.9:g.61724932C>G , CM000673.1:g.61724932C>G	GRCh37
NC_000011.8:g.61481508C>G	NCBI36
NG_009033.1:g.12577C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.710C>G MANE Select	ENSP00000367282.4:p.Thr237Arg
ENST00000378043.8:c.710C>G	ENSP00000367282.4:p.Thr237Arg
ENST00000449131.6:c.530C>G	ENSP00000399709.2:p.Thr177Arg
ENST00000524877.5:n.1142C>G
ENST00000524926.5:c.710C>G	ENSP00000432681.1:p.Thr237Arg
ENST00000526988.1:c.392C>G	ENSP00000433195.1:p.Thr131Arg
ENST00000529265.5:n.633C>G
ENST00000534553.5:c.163+1509C>G	ENSP00000431189.1:n.163+1509C>G
NM_001139443.1:c.530C>G	NP_001132915.1:p.Thr177Arg
NM_001300786.1:c.530C>G	NP_001287715.1:p.Thr177Arg
NM_001300787.1:c.530C>G	NP_001287716.1:p.Thr177Arg
NM_004183.3:c.710C>G	NP_004174.1:p.Thr237Arg
XM_005274210.2:c.710C>G	XP_005274267.1:p.Thr237Arg
XM_005274215.2:c.392C>G	XP_005274272.1:p.Thr131Arg
XM_005274216.2:c.530C>G	XP_005274273.1:p.Thr177Arg
XM_005274218.3:c.392C>G	XP_005274275.1:p.Thr131Arg
XM_005274219.2:c.710C>G	XP_005274276.1:p.Thr237Arg
XM_005274221.2:c.710C>G	XP_005274278.1:p.Thr237Arg
XM_011545229.1:c.710C>G	XP_011543531.1:p.Thr237Arg
XM_011545230.1:c.617C>G	XP_011543532.1:p.Thr206Arg
XM_011545231.1:c.392C>G	XP_011543533.1:p.Thr131Arg
XM_011545232.1:c.710C>G	XP_011543534.1:p.Thr237Arg
NM_001363591.1:c.392C>G	NP_001350520.1:p.Thr131Arg
NM_001363592.1:c.710C>G	NP_001350521.1:p.Thr237Arg
NM_001363593.1:c.-466C>G	NP_001350522.1:n.-466C>G
NR_134580.1:n.1290C>G
XM_005274210.4:c.710C>G	XP_005274267.1:p.Thr237Arg
XM_005274215.4:c.392C>G	XP_005274272.1:p.Thr131Arg
XM_005274216.4:c.530C>G	XP_005274273.1:p.Thr177Arg
XM_005274219.4:c.710C>G	XP_005274276.1:p.Thr237Arg
XM_005274221.4:c.710C>G	XP_005274278.1:p.Thr237Arg
XM_011545229.3:c.710C>G	XP_011543531.1:p.Thr237Arg
XM_011545230.3:c.617C>G	XP_011543532.1:p.Thr206Arg
XM_017018230.2:c.392C>G	XP_016873719.1:p.Thr131Arg
XR_001747952.2:n.1208C>G
XR_001747953.2:n.1400C>G
XR_001747954.2:n.1400C>G
XR_001748245.1:n.1269G>C
XR_002957249.1:n.506-228G>C
NM_004183.4:c.710C>G MANE Select	NP_004174.1:p.Thr237Arg
NM_001139443.2:c.530C>G	NP_001132915.1:p.Thr177Arg
NM_001300786.2:c.530C>G	NP_001287715.1:p.Thr177Arg
NM_001300787.2:c.530C>G	NP_001287716.1:p.Thr177Arg
NM_001363591.2:c.392C>G	NP_001350520.1:p.Thr131Arg
NM_001363593.2:c.-466C>G	NP_001350522.1:n.-466C>G
NR_134580.2:n.823C>G